Epilepsy and Moyamoya syndrome in a child with neurofibromatosis type 1

Key words: Neurofibromatosis type 1, Moyamoya syndrome, Electroencephalography, Epilepsy

Seizures are present in numerous genetic diseases involving the nervous system. Neurofibromatosis type 1 (NF1), a RASopathy characterized by peripheral and central nervous system involvement, has been associated with a higher risk of epilepsy. Recently, new insights on prevalence of epilepsy in NF1 have been produced, showing as epilepsy is primarily associated with tumors of the central nervous system. This partially explains the increased prevalence in this genetic disorder. On the other hand the type, electroclinical features, and the pathogenesis of seizures associated with NF1 without tumors, are poorly characterized to date. The Authors present a case of symptomatic epilepsy in a child with NF1 that represents the clinical onset of a Moyamoya disease. The clinical as-pects, EEG and neuroimaging features, as well as therapeutic approach are also discussed.